Canonical Allele Identifier: PA645456268
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329059
ClinVar RCV Id: RCV000275180 RCV000318544 RCV000334081 RCV000386018
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2379Asp
CA10651854
NM_000540.3:c.7136C>A